Krutovskikh V, Mironov N, Yamasaki H
Unit of Multistage Carcinogenesis, International Agency for Research on Cancer, Lyon, France.
Carcinogenesis. 1996 Aug;17(8):1761-3. doi: 10.1093/carcin/17.8.1761.
Connexins are phylogenetically conserved proteins responsible for gap junctional intercellular communication (GJIC). In tumours, GJIC is frequently disrupted. We have tested the hypothesis that the connexin 37 (Cx37) gene might be mutated in human tumours from tissues in which the Cx37 gene is known to be expressed. Eight lung adenocarcinomas and 18 sporadic breast carcinomas were analysed. While most tumours had GTA at codon 130, a base change GTA-->ATA converting valine into isoleucine was found in three breast cancers (one homozygous for ATA) and two lung tumour samples. However, screening of normal DNA from the same patients and DNA from 42 healthy donors revealed that such base change also exists in normal tissue. Thus, we conclude that there is polymorphism of the connexin 37 gene in the human population. This is the first finding of polymorphism in the connexin gene family.
连接蛋白是在系统发育上保守的蛋白质，负责间隙连接介导的细胞间通讯（GJIC）。在肿瘤中，GJIC经常被破坏。我们检验了这样一个假设：连接蛋白37（Cx37）基因可能在已知表达该基因的组织来源的人类肿瘤中发生突变。分析了8例肺腺癌和18例散发性乳腺癌。虽然大多数肿瘤在密码子130处为GTA，但在3例乳腺癌（1例为ATA纯合子）和2例肺肿瘤样本中发现了一个碱基变化GTA→ATA，将缬氨酸转换为异亮氨酸。然而，对同一患者的正常DNA以及42名健康供体的DNA进行筛查发现，这种碱基变化在正常组织中也存在。因此，我们得出结论，人群中存在连接蛋白37基因多态性。这是连接蛋白基因家族中多态性的首次发现。
